MAPKAPK3 Chromosome 3

MAPK activated protein kinase 3
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"MAPK activated protein kinases|MAPKAPK family"
Locus Type
gene with protein product
Location
3p21.2
Ensembl
ENSG00000114738
Associated Conditions (1)
Patterned macular dystrophy 3
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS372960797 Health Risk Conflicting classifications of pathogenicity
RS375412266 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 3, Patterned macular dystrophy 3
RS886037913 Health Risk Pathogenic Patterned macular dystrophy 3, Patterned macular dystrophy 3
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